{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["Illumina Genome Analyzer II;, Illumina HiSeq 2000;"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00001000226"],"sample_count":["18"],"description":["EGA dataset EGAD00001000226"],"repository":["EGA"],"title":["A common single nucleotide variant in T is strongly associated with chordoma"],"additional_accession":[]},"is_claimable":false,"name":"EGAS00001000188-sc-20120823 - samples","description":"Chordoma is a rare malignant bone tumor that expresses the transcription factor T. We conducted an association study of 40 patients with chordoma and 358 ancestry-matched, unaffected individuals with replication in an independent cohort.  Whole-exome and Sanger sequencing of T exons reveals a strong risk association ( allelic odds ratio (OR) = 4.9, P = 3.3x10-11, CI= 2.9-8.1) with the common (minor allelic frequency >5%) non-synonymous SNP rs2305089 in chordoma, which is exceptional in cancer genetics.","dates":{"updated":"2017-07-26 15:39:24"},"accession":"EGAD00001000226","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAC00001000000","EGAS00001000188"]}}